Back in 2014 after initial genetic screening was ‘inconclusive’ Proffessor Moore at Moorfields ask my permission to enter my blood into the 100,000 Genome Project. A project conducted by the NHS looking specifically at cancers and rare diseases to support treatments, diagnosis and research. (For full details on the project please visit https://www.genomicsengland.co.uk/about-genomics-england/the-100000-genomes-project)
As the name suggests it is a research programme that looks at all 100,000 genes. So I was advised it would take some time before any results were expected back.
However, Prof had felt that given my various conditions that were going on with my eyes I would most likely have some interesting results come back.
Fast forward 5 years and this arrived in the post.
Preliminary results for my genes are in, but to look at these in more detail I have been asked to send in more blood! Thankfully I was able to book in with my local doctors surgery and pop my samples back in the post. (Which is exactly what I did)
In the meantime I had my bi-annual visit to Moorfields, where the registra I saw started to explain the preliminary findings; Prof wasn’t wrong in his thoughts !!!
Which all I can say at this time is that they are most certainly interesting and not what was suspected at all. Not in a bad way, no illnesses or disturbing diseases were discovered; but in a way that has opened more questions than it has answered.
So, now to wait up to a year for the detail results to come back and hopefully a clearer understanding….. Watch this space.